A functional promoter polymorphism in interleukin-10 gene influences susceptibility to endometriosis.
OBJECTIVE
To investigate the involvement of inflammation in the development of endometriosis.


METHODS
Case-control study to investigate the association between endometriosis and four inflammation-related genes: interleukin (IL)-6, IL-10, IL-1 beta, and cyclooxygenase-2.


METHODS
University hospital.


METHODS
We had 196 cases with pathologically proved endometriosis and 397 disease-free women as control subjects.


METHODS
A total of 12 single nucleotide polymorphisms (SNPs) were selected for genotyping, including functional SNPs and common tagging SNPs.


METHODS
Logistic regression and haplotype analyses were performed to evaluate the genetic effect with adjustment for other covariates.


RESULTS
Genotypes at each SNP were in Hardy-Weinberg equilibrium in either case or control subjects, except for rs1800871 at IL-10 in the case subjects (P=.04). We found that the individuals carrying minor allele C of a functional promoter SNP rs1800871 at IL-10 was associated with a reduced risk by approximately twofold compared with the common TT genotype. The T allele was reported to have a lower gene expression level than the C allele, suggesting inadequate suppression of inflammation leading to endometriosis development. Haplotype analysis of the IL-10 gene did not yield a better result. Other genes were not associated with endometriosis.


CONCLUSIONS
This study suggests that the functional promoter polymorphism at IL-10 may play a role in the development of endometriosis.
Juo
Suh-Hang Hank
SH
Graduate Institute of Medical Genetics, Kaohsiung Medical University, Kaohsiung, Taiwan; Center of Excellence for Environmental Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Medical Research, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Wu
Rita
R
Graduate Institute of Medical Genetics, Kaohsiung Medical University, Kaohsiung, Taiwan.
Lin
Chang-Shen
CS
Graduate Institute of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Wu
Ming-Tsang
MT
Graduate Institute of Occupational Safety and Health, Kaohsiung Medical University, Kaohsiung, Taiwan; Center of Excellence for Environmental Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Family Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Lee
Jau-Nan
JN
Center of Excellence for Environmental Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Tsai
Eing-Mei
EM
Graduate Institute of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Center of Excellence for Environmental Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan. Electronic address: tsaieing@yahoo.com.
D000328:Adult; D016022:Case-Control Studies; D004715:Endometriosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D016753:Interleukin-10 / Q000235:genetics*; D015810:Linkage Disequilibrium; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics; D014591:Uterine Diseases / Q000235:genetics*
C508609:IL10 protein, human; D016753:Interleukin-10